Infertility is defined as the inability of a couple with normal sexual relations to conceive after a prolonged married life. Such couples require medical advice and, in some cases, interventions to bear a child being the primary aspiration for a happy and fulfilled life.
Infertility affects about 15 per cent of Indian couples. Late marriages, stressful lifestyles, obesity, high junk food intake, smoking, alcoholism, and drug addiction are known to contribute to the problem. Infertility has become a personal and public health issue in India. Infertility causing financial and emotional stress for couples besides social stigma.
Causes of infertility in women There are many causes of infertility in women. Here are some of the common ones:
Reduced ovarian reserve that is mostly caused by malnutrition in India. Polycystic Ovarian Disease (PCOD) Any ovarian mass, such as a chocolate cyst or endometriosis Blocked fallopian tubes Adhesion around the fallopian tubes caused by infection. In our country, tuberculosis is one of the most common causes of such infections. Uterine problems like fibroids, endometrial polyps, septate uterus, adenomyotic uterus, intrauterine adhesions, and chronic endometritis Chronic cervicitis or recurrent vaginal infections. Inability to have sexual relations due to psychological issues.
A non-gender-specific problem Both men and women may bear equal responsibility for infertility. Only 30 per cent of Indian males have normal sperm qualities, making it difficult for women to conceive. Couples tend to avoid tests, but meeting with an infertility specialist in person can help manage most cases with simple, traditional treatments.
Fertility preservation, or the storage of sperm and eggs for future use, has become possible thanks to advances in reproductive medicine. In addition, stem cell therapy is on the verge of discovering new ways to rejuvenate the eggs and sperm, known as "fertility rejuvenation."
Only true cases that necessitate advanced fertility treatments like IVF, egg donation, or surrogacy should be referred to. Awareness and sensitisation are necessary to make both genders aware of the problem.
Medical advances to the rescue With advances in medical science, such couples can now have a biological child using advanced procedures like In Vitro Fertilization (IVF), which has shown to be successful in about 75 per cent of cases, making it a popular choice for infertile couples.
There has been a noticeable increase in the number of infertile couples and fertility service providers in India over the last decade. Fertility treatments necessitate a high level of attention and insurance coverage. Experts recommend that insurers include intrauterine insemination (IUI), in vitro fertilisation (IVF), or frozen embryo transfer (FET) in their policies. One of the best ways to address the age-associated decline in fertility is through pre-implantation genetic testing.
Pre-Implantation Genetic Testing (PGT) Pre-implantation genetic testing (PGT) is a technique used to identify chromosomal genetic abnormalities in embryos created through in vitro fertilization (IVF) before pregnancy. Pre-implantation genetic testing is an umbrella term that refers to the assessment of embryos prior to implantation or pregnancy.
Pre-implantation genetic testing (PGT) examines embryos during in vitro fertilization (IVF) before possible transfer to a woman’s uterus for a range of genetic problems that can cause implantation failure, miscarriage and birth defects in a resulting child. These genetic defects include a missing or an extra chromosome in the embryo (for example, Down syndrome), single gene disorders (like sickle cell anaemia), or the rearrangement of genes, which can cause pregnancy loss and birth defects. GF uses two specific types of PGT, which is a new term encompassing the same functions as the previously named and more well-known pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) embryo genetic tests. Embryologists use PGT to find genetic defects in embryos during IVF, so those embryos will not be transferred to the woman’s uterus to achieve a pregnancy. Pre-implantation genetic screening for aneuploidy (PGS) PGS is an analysis of embryo cells to determine if there is the normal number of chromosomes. An unequal division of either sperm or egg cells can result in an embryo having too few or too many chromosomes.
Most people have 46 chromosomes because they inherit 23 chromosomes from each parent. If an embryo or a cell is missing a chromosome or has an extra one, it is called aneuploidy. Monosomy is a missing chromosome and trisomy is an extra chromosome.
A child can only survive one type of monosomy, Turner syndrome, which is the absence of one of the X chromosomes. Trisomy of chromosome pairs can sometimes result in live birth, wherein the baby is born with Down syndrome, also called trisomy 21 (an extra chromosome in normal pair # 21), Turner syndrome (trisomy 18) and Patau syndrome (trisomy 13).
Aneuploidy is one of the greatest causes of failed implantation for pregnancy and miscarriage, as well as a major cause of birth defects in children.
PGS is an ideal procedure for:
Couples who have had a previous pregnancy with aneuploidy Women who have had two or more miscarriages Women who have experienced previously failed embryo implantation Women diagnosed with unexplained infertility Women older than age 35 Women who have undergone numerous unsuccessful fertility treatments
Pre-implantation genetic diagnosis (PGD) PGD analyses for specific gene mutations that one (or both) of the parents is known to carry. A family background of genetic disorders in one or both parents can increase the possibility for a child to be born with a genetic mutation.
A disorder involving a single specific gene is due to a mutation in the DNA sequence. This results in diseases such as cystic fibrosis and sickle cell anaemia. It can also cause an inherited genetic mutation such as the BRCA1 and BRCA2 mutations that greatly increase a woman’s risk of breast cancer and ovarian cancer.
During PGD, the fertility specialist will test the embryos for specific genetic disorders before the embryo is possibly transferred to the woman’s uterus.
PGD examines common disorders including:
Huntington’s disease Sickle cell anaemia Muscular dystrophy Cystic fibrosis Beta-Thalassemia BRCA1 & BRCA2 mutations Fragile-X syndrome Tay-Sachs disease How are PGS and PGT-M performed on embryos during IVF? The two main steps to the two types of PGT are the same. The first step is an embryo biopsy. The second step is analysis of the biopsy by a laboratory to conduct genetic testing on DNA.
In both forms of testing, the biopsy is at the blastocyst (day 3 or day 5 of embryo culture) stage of development. The blastocyst is frozen right after it is biopsied to wait for the results of the testing and then is thawed and transferred to the woman in a subsequent cycle.
Genome Foundation offers PGS & PGD Genome Foundation is using State-of-the-Art technology to help screen for Aneuploidies and Monogenic Disorders in embryos (3-4 cells collected/biopsied from either Day 3 or Day 5 embryos). The entire purpose of this service is to offer comprehensive genetic testing in the shortest time possible (3 working days for PGS reports & 10-15 working days for PGD reports) keeping the ART and PCPNDT guidelines in mind. The results can be discussed in depth with the IVF specialist as per requirement.
Male Infertility Factors "Genetics is not a closed tunnel for male infertility."
30 to 40% infertility is due to male factors that include abnormal sperm production or function, due to undescended testicles/genetics/health problems such as diabetes or infections, enlarged veins in the testes (varicocele) affecting the quality of sperm, etc. Medical intervention, including surgery can cure several of these factors. Several cases not responding to treatment are considered ‘genetic’ and 'un-treatable'. However, in 90% of male infertility cases that are considered ‘genetic & un-treatable’, genetic evaluation of sperm DNA integrity/Y chromosome deletions has proved to be treatable, giving hope to many.
Sperm DNA Integrity/DNA Fragmentation Test
This test helps in thorough analysis of sperm health, as >15% of infertile men have normal semen analysis results. Lifestyle changes and antioxidant vitamin supplementation are suggestive of improvement. Specific evaluation and therapy can lead to improvement of the condition.
Y Chromosome Genes - Mutations (Y Chromosome Micro-deletion) Test
In the Y Chromosome there are genes in the long arm regions, usually referred to as AZF a,b,c (figure) that are responsible for sperm production and maturity. Evaluation of mutations in the form of small, microdeletions in these regions are found to be the best prognostic markers for male infertility.